Behind the Counter, Beside the Bed: The Real World of Pharmacy
Ever wonder what truly happens after your doctor writes a prescription? In this episode of Medically Speaking, Dr. Eve Glazier sits down with oncology pharmacist Melissa Dinolfo, who devoted 42 years to pharmacy across retail, hospital, and cancer care, to reveal the unseen world of “the pharmacy behind the scenes.”
From hand-filled prescriptions to modern, evidence-driven oncology, Melissa traces the evolution of pharmacy and explains how medications move from lab to patient. She breaks down how pharmacists dose safely, navigate insurance barriers, manage side effects, and advocate for patients, and why they remain some of healthcare’s most essential partners. She also shares practical advice on how patients can work effectively with their pharmacist, ask the right questions, and make the most of their medications.
Whether you’ve picked up a prescription at a big-box pharmacy or received life-changing therapy in a hospital, this episode offers a new appreciation for the people who make your medicines possible and guidance for becoming a more empowered partner in your own care.
🎧 Tune in to learn how pharmacy really works and why pharmacists deserve a front-row seat in the conversation about your health.
Podcast Credits UCLA Health Medically Speaking with Dr. Eve Glazier
Amyloidosis and the Eye
Amyloidosis can indeed be found in the eye according to Dr. Chafic Karam, professor of neurology from the University of Pennsylvania. In addition, while most of the transthyretin protein originates in the liver, local production is found in other areas of the body such as the brain and retina.
AMYLOIDOSIS
Amyloidosis is a rare disease that happens when abnormal transthyretin proteins called amyloid build up in different parts of the body, including the eye and surrounding areas.
Some people develop localized amyloidosis, meaning the protein buildup only affects the eye. Others have systemic amyloidosis, where amyloid deposits form in multiple organs, including the kidneys and heart. Systemic amyloidosis can increase the risk of kidney damage and heart failure.
HOW AMYLOIDOSIS CAN AFFECT THE EYE
Amyloidosis can affect multiple structures of the eye including the eyelids, cornea, retina, and the gel-like substance inside the eye, with symptoms such as droopy eyelids, vision changes, and dry eyes, while certain types of amyloidosis are more likely to affect specific parts of the eye. Ocular amyloidosis (amyloidosis in the eye) can cause symptoms that range from mild discomfort to serious vision problems.
Symptoms can include:
Lumps under the skin
Ptosis (a droopy eyelid)
Diplopia (double vision)
Constant eye irritation, which may feel like dryness
Blurred vision or seeing “floaters,” cobwebs, or sheets
Globally displaced or protruded eye
Purpura (purple or blue skin) surrounding the eyes, which may appear or worsen when you touch or rub your eyes
AMYLOIDOSIS IN THE EYELIDS, ORBIT, AND CONNECTIVE TISSUE OF THE EYE
Amyloid proteins can build up in the outer parts of the eye, including the eyelid skin, the orbit (the bones that form the eye socket), and the connective tissues that help the eyes move.
AMYLOIDOSIS IN THE CONJUNCTIVA
The conjunctiva is a thin, moist membrane that lines the inside of the eyelids and covers the white part of the eye. In some cases, amyloid proteins may be deposited in this membrane, leading to conjunctival amyloidosis.
Conjunctival amyloidosis usually appears as a small, yellow, waxy mass on the eye. It can occur in both AL amyloidosis and AA amyloidosis. Some people with conjunctival amyloidosis have other amyloidosis-related symptoms in the body, while others do not.
A specific type of amyloidosis, called hereditary amyloidosis (familial amyloidosis), is strongly linked to amyloidosis in the conjunctiva. Hereditary transthyretin (TTR) amyloidosis (hATTR amyloidosis) happens when the liver makes an abnormal form of the TTR protein, which can lead to amyloid buildup in various organs, including the eyes. Since hATTR amyloidosis runs in families, people with a family history should be aware of potential symptoms.
One small-scale study found that among 37 people with hATTR amyloidosis, 75 percent developed abnormal blood vessels in the conjunctiva. This eye problem can lead to severe vision loss, especially if not identified and treated early.
AMYLOIDOSIS IN THE CORNEA
The cornea is the clear, dome-shaped layer over the iris (colored part of the eye). It helps focus light into the eye, allowing you to see clearly. Amyloidosis can affect the cornea in several ways.
Gelatinous Drop-Like Corneal Dystrophy
A hereditary form of amyloidosis can cause gelatinous drop-like corneal dystrophy, a condition where amyloid proteins build up on the cornea. This buildup makes it harder to see and can cause vision problems over time.
Lattice Stromal Dystrophies
Amyloid proteins can also lead to lattice stromal dystrophies, where branching, white lines form inside the cornea. People with this condition may notice white dots and a hazy appearance in the cornea. These dystrophies are caused by specific genetic mutations (changes) linked to amyloidosis.
Keratoconjunctivitis Sicca and Corneal Neuropathy
Hereditary TTR amyloidosis is often associated with corneal neuropathy (loss of corneal sensitivity), which is important for blinking and eye protection. It can also lead to corneal ulcers (open sores on the cornea). Amyloid deposits in the cornea may cause a disease called keratoconjunctivitis sicca (KCS), also known as dry eye disease. KCS can cause severe corneal dryness, which may lead to damage if untreated.
AMYLOIDOSIS IN THE IRIS OR LENS
When amyloidosis affects the iris or lens, it can lead to glaucoma, a group of eye diseases that damage the optic nerve, which carries signals from the eye to the brain. This damage can cause vision loss. Types of glaucoma linked to amyloidosis include rubeotic glaucoma and particle/particulate glaucoma.
Amyloidosis can also cause a condition called scalloped pupils. In this condition, the border between the iris (the colored part of the eye) and the pupil is uneven, giving the pupil a wavy or scalloped appearance. This happens when amyloid deposits build up around the pupil, pushing it out of shape. In some cases, scalloped pupils can be a sign of systemic (whole-body) amyloidosis.
Hereditary amyloidosis is the most common cause of amyloidosis in the iris or lens. Specifically, familial amyloidosis is strongly linked to chronic open-angle glaucoma, a condition that slowly increases pressure inside the eye, leading to vision loss over time.
Additionally, people with hATTR amyloidosis often develop more cataracts and far-sightedness earlier than usual.
AMYLOIDOSIS IN THE RETINA OR VITREOUS
The vitreous is the gel-like substance that fills much of the inside of the eye. When amyloidosis affects the vitreous, it produces opaque (cloudy) areas in the gel that can look like cobwebs, sheets, or pearls. The severity of vision problems depends on how dense the amyloid deposits are.
The retina is the light-sensitive membrane at the back of the eye that helps the brain process images. Amyloid proteins in the retina can change how the eye detects light. This can lead to discolorations in the retina or distortion of its shape.
Amyloidosis in the retina or the vitreous is usually caused by hereditary amyloidosis. About 20 percent of people with hATTR have hemorrhages and cotton wool spots (fluffy white patches of retinal damage) on eye exams, which are signs of retinal and vitreous disease. Retinal amyloidosis may also occasionally occur in primary amyloidosis that affects the whole body.
AMYLOIDOSIS AND OCULAR INVOLVEMENT FROM AN EXPERT
Dr. Chafic Karam, professor of neurology from the University of Pennsylvania, provides an informative overview of how certain mutations of transthyretin amyloidosis are being diagnosed in the central nervous system (CNS), which includes the eye. Starting at 8:15 in the video below, Dr. Karam discusses ocular involvement with amyloidosis – symptoms, how and where the eye can be impacted, and treatment considerations. With patients living longer due to successful amyloidosis therapies now available, he predicts neurologists will see more and more patients with CNS complications and ocular involvement.
Reynolds MM, Veverka KK, Gertz MA, Dispenzieri A, Zeldenrust SR, Leung N, Pulido JS. OCULAR MANIFESTATIONS OF SYSTEMIC AMYLOIDOSIS. Retina. 2018 Jul;38(7):1371-1376. doi: 10.1097/IAE.0000000000001901. PMID: 29068915.
Amyloidosis and Ocular Involvement: an Overview
Dammacco R, Merlini G, Lisch W, Kivelä TT, Giancipoli E, Vacca A, Dammacco F. Amyloidosis and Ocular Involvement: an Overview. Semin Ophthalmol. 2020 Jan 2;35(1):7-26. doi: 10.1080/08820538.2019.1687738. Epub 2019 Dec 12. PMID: 31829761.
Kidney Transplantation for Patients with AL Amyloidosis
Dr. Heather Landau, Director of the Amyloidosis Program at Memorial Sloan Kettering, gives an excellent lecture on why now is the time to consider kidney transplantation for AL amyloidosis patients. She details why the determination is complex and weighty, while offering the offsetting balance of daily and long-term implications of renal replacement therapy. Dr. Landau goes on to discuss “Why now?”, pre-transplant evaluation, and which AL amyloidosis patients would lead the kidney transplant consideration. She concludes the lecture with post-transplant management/follow-up recommendations.
Patient Insights: My Doctor’s Persistence Kept Me Going
Our patient speakers at the Amyloidosis Speakers Bureau are powerful educators and offer compelling insights. Have a listen to this brief clip from Rayna. She talks about how her doctor’s persistence and unwillingness to give up gave her great strength to keep going.
Accelerating the Diagnosis of Cardiac Amyloidosis with AI
What is Cardiac Amyloidosis?
According to the University of Chicago, “Cardiac amyloidosis is a heart condition in which abnormal proteins build up in the heart muscle, making it stiff and impairing its ability to pump blood. Multiple life-prolonging drug treatments for this condition have recently become available, but without early diagnosis, physicians miss out on opportunities to extend patients’ survival and quality of life.”
“Unfortunately, cardiac amyloidosis can be challenging to diagnose, because it’s often difficult to distinguish from other heart issues without a burdensome amount of testing,” explained co-lead author Jeremy Slivnick, MD, a cardiologist at the University of Chicago Medicine.
The Promise of AI
AI is improving cardiac amyloidosis diagnosis by using algorithms to analyze medical imaging and data, which can lead to earlier and more accurate detection than traditional methods. These tools can automatically analyze echocardiograms, electrocardiograms (ECGs), and scintigraphy scans to identify the disease, which is crucial for timely treatment because new therapies are most effective in the early stages. Some AI models are FDA-cleared and are being implemented in clinical settings.
How AI is used in diagnosing cardiac amyloidosis
Echocardiography: AI tools can analyze echocardiogram videos to detect signs of cardiac amyloidosis with high accuracy, outperforming traditional scoring methods.
Electrocardiogram (ECG): AI-enhanced ECG models can identify patients at high risk for cardiac amyloidosis, helping to flag them for further evaluation and monitor disease progression during treatment.
Scintigraphy: AI systems can analyze nuclear medicine scintigraphy scans to automatically detect cardiac amyloidosis, performing as reliably as medical experts.
Infrared Spectroscopy: A new method uses infrared imaging to identify the molecular “fingerprints” of amyloidosis-causing proteins. AI is used to analyze these fingerprints, providing a faster, non-invasive alternative to biopsies.
Benefits of using AI
Earlier detection: AI can identify the disease at an earlier stage, which is critical for starting treatment when it is most effective.
Improved accuracy: AI tools have shown high sensitivity and specificity in detecting amyloidosis, sometimes outperforming current clinical practices.
Increased efficiency: Some AI systems can provide results within minutes, speeding up the diagnostic process and integrating seamlessly into clinical workflows.
Reduced costs and invasiveness: AI has the potential to reduce reliance on expensive or invasive procedures, like biopsies, especially when used to screen patients.
Broader access: The broad applicability of AI to common tests like echocardiograms and ECGs means it can be implemented in many clinical settings.
Limitations and future directions
Need for prospective validation: While promising, AI models still require more testing in clinical practice to understand their full capabilities and limitations.
Data and transparency: Challenges remain, including the need for more diverse data and improving the transparency of AI decision-making.
Widespread implementation: While some AI tools have received FDA clearance and are being implemented, widespread use in routine care is still a future goal.
Ultromics’ EchoGo Amyloidosis Tool
Researchers from Mayo Clinic and Ultromics, with investigators at the University of Chicago Medicine and collaborators around the world, validated and tested EchoGo Amyloidosis on a large and multiethnic patient population and compared its abilities to other diagnostic methods for cardiac amyloidosis.
“Their findings, published in the European Heart Journal, show that the AI model was highly accurate, with 85% sensitivity (correctly identifying those with the disease) and 93% specificity (correctly identifying those without the disease). Using a single echocardiography videoclip, the model was effective across all major types of cardiac amyloidosis and distinguished it from other conditions with similar characteristics.”
An Example of AI Integrated Into Workflow at the City of Hope
Hear from Dr. Faizi A. Jamal, Chief, Division of Cardiology and Director, Non-Invasive Cardiology Laboratory at the City of Hope National Medical Center who has been at the forefront of evaluating the clinical utility of AI based review of echocardiography in the diagnosis of cardiac amyloidosis. In this video he shares his experience with Ultromics’s EchoGo Amyloidosis, and how the City of Hope has incorporated this into their clinical workflow. He discusses the typical initial reasoning for ordering echocardiograms, which is to understand the severity of issues such as HFpEF or Aortic Stenosis, and how AI can take the analysis further to explore whether cardiac amyloidosis may be an underlying cause of the condition. Dr. Jamal discusses the multiple clinical challenges to diagnosing cardiac amyloidosis and details the numerous benefits experienced from the AI based review of echocardiograms. “EchoGo Amyloidosis is going to be revolutionary, based upon the volume of undiagnosed patients that are out there. It’s going to undoubtedly detect patients and impact morbidity and mortality for this disease.”
Kamel MA, Abbas MT, Kanaan CN, Awad KA, Baba Ali N, Scalia IG, Farina JM, Pereyra M, Mahmoud AK, Steidley DE, Rosenthal JL, Ayoub C, Arsanjani R. How Artificial Intelligence Can Enhance the Diagnosis of Cardiac Amyloidosis: A Review of Recent Advances and Challenges. J Cardiovasc Dev Dis. 2024 Apr 13;11(4):118. doi: 10.3390/jcdd11040118. PMID: 38667736; PMCID: PMC11050851.
Ultromics EchoGo Amyloidosis The first FDA-cleared, AI-based screening tool designed to help identify patients at risk of cardiac amyloidosis from an echocardiogram.
Clinical Utility of AI Based Review of Echocardiography for Diagnosis of Cardiac Amyloidosis
Dr. Faizi A. Jamal, Chief, Division of Cardiology and Director, Non-Invasive Cardiology Laboratory at the City of Hope National Medical Center has been at the forefront of evaluating the clinical utility of AI based review of echocardiography in the diagnosis of cardiac amyloidosis. In this video he shares his experience with Ultromics’s EchoGo Amyloidosis, and how the City of Hope has incorporated this into their clinical workflow. He discusses the typical initial reasoning for ordering echocardiograms, which is to understand the severity of issues such as HFpEF or Aortic Stenosis, and how AI can take the analysis further to explore whether cardiac amyloidosis may be an underlying cause of the condition. Dr. Jamal discusses the multiple clinical challenges to diagnosing cardiac amyloidosis and details the numerous benefits experienced from the AI based review of echocardiograms. “EchoGo Amyloidosis is going to be revolutionary, based upon the volume of undiagnosed patients that are out there. It’s going to undoubtedly detect patients and impact morbidity and mortality for this disease.”
Click HERE, or on graphic below to view Dr. Jamal’s video.
Patient Insights: Think Beyond the Silos
Our patient speakers at the Amyloidosis Speakers Bureau are powerful educators and offer compelling insights. Have a listen to this brief clip from Robert where he talks about the need for broader coordination across specialists and how this is critical for patients with multi-systemic disease.
CCOM Hosts Patient Panel on Rare Disease Amyloidosis
The Chicago College of Osteopathic Medicine (CCOM) held a patient panel about amyloidosis, a rare disease where abnormal proteins build up in different tissues and organs. The patient panel was an opportunity for medical students to increase their awareness of amyloidosis and hear a patient’s experience living with the rare disease. According to the Amyloidosis Foundation, there are less than 200,000 people in the U.S. who have been diagnosed with amyloidosis.
George Borrelli, D.O., Chair, Clinical Integration, CCOM, welcomed the audience to the patient panel and discussed the importance of the supplemental learning opportunity for the students. “It gives you an opportunity to not only learn about a disease, but to get an account from a patient who has actually gone through the situation.” Dr. Borrelli elaborated, “The earlier this disease is diagnosed, the better the outcomes are. For so many years, this disease has been an enigma, difficult to diagnose, and slipped through many clinicians’ fingers.”
Liz Schwartz, who is living with amyloidosis, visited Midwestern University and shared her experience with the rare disease. Liz is a patient educator with the Amyloidosis Speakers Bureau.
Medical students at the Chicago College of Osteopathic Medicine (CCOM) experienced a unique opportunity to hear firsthand from a patient living with a rare and complex disease. The amyloidosis patient panel gave first- and second-year students the chance to ask questions, gain insights beyond textbooks, and better understand the impact of delayed diagnosis.
We are grateful to Dr. George Borrelli and Paula Kolodziej for inviting us year after year. The link below is to the full article published by Midwestern University.
Heart failure is a complex and debilitating condition affecting millions of individuals worldwide. While it has several underlying causes, one often-overlooked contributor to heart failure is amyloidosis.
In this month’s piece we look to the Heart Failure Society of America and their piece titled “The Silent Intruder: Amyloidosis’ Hidden Role in Heart Failure.”
Understanding Amyloidosis
Amyloidosis is a rare but serious disease characterized by the buildup of abnormal proteins in various organs, including the heart. Amyloidosis occurs when a protein called amyloid builds up in different parts of the body, including the nervous system, tissues or even organs. These abnormal proteins (amyloids) are misfolded and can impair the normal functioning of organs, including the heart. There are different types of amyloidosis, but two forms stand out for their connection to heart failure: AL amyloidosis (immunoglobulin light chain) and ATTR amyloidosis (transthyretin). Symptoms of amyloidosis may vary, depending on which organs are affected. Signs and symptoms of amyloidosis may include:
Severe fatigue and weakness
Shortness of breath
Numbness, tingling, or pain in the hands or feet (polyneuropathy)
Swelling of the ankles and legs
Diarrhea, possibly with blood, or constipation
An enlarged tongue, which sometimes looks rippled around its edge
Skin changes, such as thickening or easy bruising, and purplish patches around the eyes
Due to the similarity of these symptoms with other heart conditions, amyloidosis is often misdiagnosed or diagnosed late, emphasizing the importance of raising awareness about its hidden role in heart failure.
The Hidden Role in Heart Failure (HF)
Amyloidosis can affect the heart in several ways, leading to heart failure:
Cardiac Amyloidosis: In cardiac amyloidosis, sometimes called stiff heart syndrome, amyloid deposits take the place of normal heart muscle, disrupting the heart’s normal structure and function. This can lead to restrictive cardiomyopathy, a condition where the heart becomes stiff and less able to pump blood effectively.
Diastolic Dysfunction: Amyloid deposits in the heart can make it difficult for the heart to relax properly during the diastolic phase, impairing its ability to fill with blood. This diastolic dysfunction can result in heart failure with preserved ejection fraction (HFpEF).
Arrhythmias: Amyloidosis can disrupt the heart’s electrical system, leading to arrhythmias (irregular heart rhythms) that can further exacerbate heart failure symptoms.
Diagnosing Amyloidosis
Amyloidosis can be confirmed through specialized tests, including tissue biopsies or imaging scans such as MRIs. Some cases of amyloidosis are hereditary, so if you or anyone else in your family has or had amyloidosis, it can be beneficial for you to take a genetic test to determine if you carry the gene.
Learn More About Amyloidosis
Amyloidosis, which can be a hidden contributor to heart failure, deserves greater recognition and awareness within the medical community and among patients. Timely diagnosis and appropriate management can make a significant difference in the prognosis of individuals affected by amyloidosis.
WATCH: Cardiac Amyloidosis from a Cardiologist
Dr. Barry Trachtenberg, cardiologist at Houston Cardiovascular Associates, shares ways that physicians can raise their awareness of cardiac amyloidosis, whether AL or ATTR. He discusses multiple organ systems and how test results may present clues to consider amyloidosis. He offers a diagnostic algorithm with early red flags that can aid in the identification and typing of amyloidosis. Dr. Trachtenberg concludes with keys to remember, including questions to ask patients, which can elevate the suspicion of amyloidosis.
Patient Insights: Improving Communication Among Care Team
Our patient speakers at the Amyloidosis Speakers Bureau are powerful educators and offer compelling insights. Have a listen to this brief clip from Liz as she talks about the need to coordinate communication between her specialist providers – it’s often not easy.
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